Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
128178
Gene name Gene Name - the full gene name approved by the HGNC.
EDAR associated via death domain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EDARADD
Synonyms (NCBI Gene) Gene synonyms aliases
CR, ECTD11A, ECTD11B, ED3, EDA3
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ECTD11A, ECTD11B
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q42.3-q43
Summary Summary of gene provided in NCBI Entrez Gene.
This gene was identified by its association with ectodermal dysplasia, a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands. The protein encoded by this gene is a death domain-containing protein, and is found
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs74315309 G>A Pathogenic Missense variant, coding sequence variant
rs121908116 T>G Pathogenic Missense variant, coding sequence variant
rs397515575 AACGGT>- Pathogenic Coding sequence variant, inframe deletion
rs766500689 C>A,T Pathogenic Stop gained, synonymous variant, coding sequence variant
rs879255553 G>A Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT043891 hsa-miR-378a-3p CLASH 23622248
MIRT040816 hsa-miR-18a-3p CLASH 23622248
MIRT638797 hsa-miR-6890-3p HITS-CLIP 23824327
MIRT638796 hsa-miR-6741-3p HITS-CLIP 23824327
MIRT638795 hsa-miR-1304-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 31515488
GO:0005829 Component Cytosol TAS
GO:0007275 Process Multicellular organism development IEA
GO:0030154 Process Cell differentiation IEA
GO:0033209 Process Tumor necrosis factor-mediated signaling pathway TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606603 14341 ENSG00000186197
Protein
UniProt ID Q8WWZ3
Protein name Ectodysplasin-A receptor-associated adapter protein (EDAR-associated death domain protein) (Protein crinkled homolog)
Protein function Adapter protein that interacts with EDAR DEATH domain and couples the receptor to EDA signaling pathway during morphogenesis of ectodermal organs. Mediates the activation of NF-kappa-B.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00531 Death 122 199 Death domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in adult pancreas, placenta and fetal skin, and at lower levels in lung, thymus, prostate and testis.
Sequence
MGLRTTKQMGRGTKAPGHQEDHMVKEPVEDTDPSTLSFNMSDKYPIQDTELPKAEECDTI
TLNCPRNSDMKNQGEENGFPDSTGDPLPEISKDNSCKENCTCSSCLLRAPTISDLLNDQD
LLDVIRIKLDPCHPTVKNWRNFASKWGMSYDELCFLEQRPQSPTLEFLLRNSQRTVGQLM
ELCRLYHRADVEKVLRRWV
DEEWPKRERGDPSRHF
Sequence length 215
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  NF-kappa B signaling pathway   TNFs bind their physiological receptors
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
28736931
Ectodermal dysplasia Ectodermal Dysplasia, Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive, Ectodermal Dysplasia 3, Anhidrotic, ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT, ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT rs74315309, rs121908116, rs1558814967, rs121908450, rs121908452, rs121908453, rs797044435, rs121908454, rs121908455, rs121908456, rs797044436, rs797044437, rs137853324, rs137853325, rs137853326
View all (42 more)
20222921, 11780064, 25206167, 17354266, 20979233
Hypohidrotic ectodermal dysplasia Autosomal recessive hypohidrotic ectodermal dysplasia, Autosomal dominant hypohidrotic ectodermal dysplasia rs104894415, rs28937872, rs104894416
Hypohidrotic ectodermal dysplasia, x-linked Christ-Siemens-Touraine syndrome, Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder) rs132630308, rs132630310, rs132630311, rs132630312, rs132630313, rs132630314, rs132630316, rs132630317, rs132630318, rs1569404873, rs1569406514, rs132630321, rs387907197, rs397516654, rs397516656
View all (87 more)
25206167, 20222921
Unknown
Disease term Disease name Evidence References Source
Tooth Agenesis tooth agenesis GenCC
Cleft Lip With Or Without Cleft Palate Cleft Lip With Or Without Cleft Palate GWAS
Associations from Text Mining
Disease Name Relationship Type References
Anodontia Associate 22581971, 27665865
Carcinoma Non Small Cell Lung Associate 26449251
Colorectal Neoplasms Stimulate 37838280
Dental Caries Associate 21940522, 39543892
Ectodermal Dysplasia Associate 22581971, 30974434, 34573371, 37673591
Ectodermal Dysplasia 1 Anhidrotic Associate 33205897
Ectodermal Dysplasia Hypohidrotic Autosomal Recessive Associate 30974434
Genetic Diseases Inborn Associate 37673591
Neoplasms Associate 32188493
Neural crest tumor Associate 31796081